title: Fragile X frequency in a mentally retarded population in Brazil.
abstract: Seventy-five male and 50 female students from 2 special schools for mildly, moderately retarded, or borderline individuals were screened clinically and cytogenetically in order to estimate the contribution of fragile X [fra(X)] syndrome to the cause of mental retardation in Brazil. We found 6 males (8%) from 4 families and 2 unrelated females (4%) with fra(X) chromosomes. One male and one female were isolated cases. The estimated frequency of Martin-Bell [fra(X)] syndrome among mentally impaired individuals in Brazil was similar to that previously reported in other countries.
authors.affiliation: Department of Biology, University of São Paulo, Brazil.
authors.forename: R C
authors.initials: RC
authors.lastname: Mingroni-Netto
authors.forename: C
authors.initials: C
authors.lastname: Rosenberg
authors.forename: A M
authors.initials: AM
authors.lastname: Vianna-Morgante
authors.forename: R de C
authors.initials: Rde C
authors.lastname: Pavanello
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002871:Chromosome Banding; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications*; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations